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The complexity of epigenetic diseases.


ABSTRACT: Over the past 30 years, a plethora of pathogenic mutations affecting enhancer regions and epigenetic regulators have been identified. Coupled with more recent genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS) implicating major roles for regulatory mutations in disease, it is clear that epigenetic mechanisms represent important biomarkers for disease development and perhaps even therapeutic targets. Here, we discuss the diversity of disease-causing mutations in enhancers and epigenetic regulators, with a particular focus on cancer.

SUBMITTER: Brazel AJ 

PROVIDER: S-EPMC4982038 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature

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The complexity of epigenetic diseases.

Brazel Ailbhe Jane AJ   Vernimmen Douglas D  

The Journal of pathology 20151117 2


Over the past 30 years, a plethora of pathogenic mutations affecting enhancer regions and epigenetic regulators have been identified. Coupled with more recent genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS) implicating major roles for regulatory mutations in disease, it is clear that epigenetic mechanisms represent important biomarkers for disease development and perhaps even therapeutic targets. Here, we discuss the diversity of disease-causing mutations in  ...[more]

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